Methodology:
The case presented involves a patient with a complex condition who was ultimately diagnosed with intestinal lymphangiectasia, a rare disease characterized by excessive loss of proteins through the lymphatic vessels of the small intestine. This disorder can lead to serious complications due to protein deficiency and the loss of other important blood components.
The diagnostic approach was meticulous, considering a variety of possible causes for the patient’s symptoms, such as extrapulmonary tuberculosis, autoimmune diseases like Crohn’s disease and systemic lupus erythematosus, as well as primary immunological disorders. The observation of characteristic lesions in the small intestine, resembling ”snowflake-like flakes,” during endoscopic evaluation was crucial in reaching the diagnosis.
Once the histopathological diagnosis of intestinal lymphangiectasia was established, it was necessary to confirm the abnormal protein loss at the intestinal level. Therefore, ”99mTc-labeled Albumin Macroaggregate Scintigraphy” was performed, which not only confirmed the losses but also localized the sites of greatest leakage, mainly in the terminal ileum, where snowflake-like lesions were found.
Patient management focused on symptomatic treatment, as there is no specific therapy for this disease. A high-protein diet was implemented, and human albumin was administered to address protein deficiency. However, despite these efforts, the patient experienced progressive deterioration and developed infectious complications that contributed to a fatal outcome. 6
It is crucial to highlight that intestinal lymphangiectasia is a disease with a variable but potentially severe prognosis that can limit the patient’s life expectancy. Management focuses on relieving symptoms and preventing complications, but it is not always effective in halting disease progression. In some cases, such as this one, a fatal outcome is unfortunately a possibility, especially when severe complications occur.6